Matching Items (10)

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Beginning to investigate Lactase Persistence in Turkana

Description

Lactase persistence is the ability of adults to digest lactose in milk (Segurel & Bon, 2017). Mammals are generally distinguished by their mammary glands which gives females the ability to produce milk and feed their newborn children. The new born

Lactase persistence is the ability of adults to digest lactose in milk (Segurel & Bon, 2017). Mammals are generally distinguished by their mammary glands which gives females the ability to produce milk and feed their newborn children. The new born therefore requires the ability to breakdown the lactose in the milk to ensure its proper digestion (Segurel & Bon, 2017). Generally, humans lose the expression of lactase after weaning, which prevents them being able to breakdown lactose from dairy (Flatz, 1987).
My research is focused on the people of Turkana, a human pastoral population inhabiting Northwest Kenya. The people of Turkana are Nilotic people that are native to the Turkana district. There are currently no conclusive studies done on evidence for genetic lactase persistence in Turkana. Therefore, my research will be on the evolution of lactase persistence in the people of Turkana. The goal of this project is to investigate the evolutionary history of two genes with known involvement in lactase persistence, LCT and MCM6, in the Turkana. Variants in these genes have previously been identified to result in the ability to digest lactose post-weaning age. Furthermore, an additional study found that a closely related population to the Turkana, the Massai, showed stronger signals of recent selection for lactase persistence than Europeans in these genes. My goal is to characterize known variants associated with lactase persistence by calculating their allele frequencies in the Turkana and conduct selection scans to determine if LCT/MCM6 show signatures of positive selection. In doing this, we conducted a pilot study consisting of 10 female Turkana individuals and 10 females from four different populations from the 1000 genomes project namely: the Yoruba in Ibadan, Nigeria (YRI); Luhya in Webuye, Kenya; Utah Residents with Northern and Western European Ancestry (CEU); and the Southern Han Chinese. The allele frequency calculation suggested that the CEU (Utah Residents with Northern and Western European Ancestry) population had a higher lactase persistence associated allele frequency than all the other populations analyzed here, including the Turkana population. Our Tajima’s D calculations and analysis suggested that both the Turkana population and the four haplotype map populations shows signatures of positive selection in the same region. The iHS selection scans we conducted to detect signatures of positive selection on all five populations showed that the Southern Han Chinese (CHS), the LWK (Luhya in Webuye, Kenya) and the YRI (Yoruba in Ibadan, Nigeria) populations had stronger signatures of positive selection than the Turkana population. The LWK (Luhya in Webuye, Kenya) and the YRI (Yoruba in Ibadan, Nigeria) populations showed the strongest signatures of positive selection in this region. This project serves as a first step in the investigation of lactase persistence in the Turkana population and its evolution over time.

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Date Created
2019-05

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Genie: A Population Genetics Simulation Built with JavaScript

Description

The modern web presents an opportunity for educators and researchers to create tools that are highly accessible. Because of the near-ubiquity of modern web browsers, developers who hope to create educational and analytical tools can reach a large au- dience

The modern web presents an opportunity for educators and researchers to create tools that are highly accessible. Because of the near-ubiquity of modern web browsers, developers who hope to create educational and analytical tools can reach a large au- dience by creating web applications. Using JavaScript, HTML, and other modern web development technologies, Genie was developed as a simulator to help educators in biology, genetics, and evolution classrooms teach their students about population genetics. Because Genie was designed for the modern web, it is highly accessible to both educators and students, who can access the web application using any modern web browser on virtually any device. Genie demonstrates the efficacy of web devel- opment technologies for demonstrating and simulating complex processes, and it will be a unique educational tool for educators who teach population genetics.

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Date Created
2015-05

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Differential Nucleotide Diversity and Linkage Disequilibrium Levels at Homoelogous Loci Associated with Fiber Traits in Cotton (G. barbadense L.)

Description

The modern tetraploid species Gossypium barbadense L. (AD2) traces its origins to an allopolyploidy event between diploid progenitors G. raimondii (DT Genome, Americas) and G. herbaceum (AT Genome, Asia/Africa). In this study, nine fiber-related genes consisting of seven MYB transcription

The modern tetraploid species Gossypium barbadense L. (AD2) traces its origins to an allopolyploidy event between diploid progenitors G. raimondii (DT Genome, Americas) and G. herbaceum (AT Genome, Asia/Africa). In this study, nine fiber-related genes consisting of seven MYB transcription factors, a cellulose synthase homolog, and a tubulin homolog were resequenced across 54 G. barbadense lines spanning the wild-to-domesticated spectrum. Tests for nucleotide diversity (π), linkage disequilibrium (LD), and Tajima’s D were performed to examine the extent to which evolutionary forces have acted on these nine loci in G. barbadense. Results indicated that the AT-genome loci had significantly higher levels of diversity and lower levels of LD relative to homoelogous loci from the DT-genome. Additionally, all loci showed signatures of a population size expansion after a bottleneck or selective sweep and/or purifying selection. As previously shown for a sister tetraploid taxa (G. hirsutum), gene conversion resulting from a DT-genome allele invasion into the AT-genome likely explains the higher levels of diversity and lower levels of intragenic LD in the AT-genome. Given the relatively very low level of genetic diversity in elite lines, introduction of novel alleles from wild, land race, or obsolete lines into modern Pima cotton breeding programs is needed to expand the narrow gene pool of G. barbadense for continual yield improvements.

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Date Created
2013-05

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APOE Variants and Alzheimer's Disease Progression in the Tempe Population

Description

Apolipoprotein (ApoE) plays an important role in the transport of lipids in the brain for normal functioning. There are three different isoforms of ApoE which are coded for by three alleles (E2, E3, E4). Patients carrying at least one

Apolipoprotein (ApoE) plays an important role in the transport of lipids in the brain for normal functioning. There are three different isoforms of ApoE which are coded for by three alleles (E2, E3, E4). Patients carrying at least one copy of ApoE E4 are known to be at higher risk for developing Alzheimer’s disease (AD) and earlier onset of symptoms. This is due to the buildup of amyloid plaques and neurofibrillary tangles of the brain from the accumulation of tau proteins, which are associated with the progression of Alzheimer’s disease. However, findings on ApoE E2 have shown that it may be a protective allele since it is linked to a decreased risk of formation of amyloid plaques and neurofibrillary tangles. To study this phenomenon within the context of a local population group, polymerase chain reaction and gel electrophoresis were conducted on extracted DNA samples. The principal goal in this research study was to genotype ApoE variants using single nucleotide polymorphism (SNP) specific primers, and polymerase chain reaction to analyze the frequency in the Tempe population to determine future healthcare needs.

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Date Created
2021-05

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Hybridization and speciation in common and black-tufted marmosets (Callithrix jacchus and C. penicillata)

Description

As an evolutionary force, hybridization outcomes include introgression, admixture, speciation, and reproductive isolation. While hybridization has been studied in several primates, the marmoset genus Callithrix is an important, but little studied example of Neotropical hybridization. Varying degrees of reproductive isolation

As an evolutionary force, hybridization outcomes include introgression, admixture, speciation, and reproductive isolation. While hybridization has been studied in several primates, the marmoset genus Callithrix is an important, but little studied example of Neotropical hybridization. Varying degrees of reproductive isolation exist between Callithrix species, and hybridization occurs at species borders or regions containing introduced and native species. Interbreeding between Callithrix species carries important implications for biodiversity and genetic integrity within the genus. However, species origins and levels of genetic admixture in marmoset hybrid zones are generally unknown, and few population genetic studies of individual Callithrix species exist. Using the mitochondrial control region and 44 microsatellite markers, this work explored the genetic diversity and species origins of two C. penicillata and C. jacchus hybrid zones, as well as genetic diversity and divergence in the parental species. Both marker types showed that C. penicillata is more genetically diverse than C. jacchus. Based on mtDNA, C. jacchus seems to have experienced a past population expansion and C. penicillata evolved under constant population size. The data revealed the existence of a previously undocumented natural hybrid zone along the São Francisco River in NE Brazil and confirmed species origins of an anthropogenic zone in Rio de Janeiro state. The data also showed much lower levels of admixture and genetic diversity within the natural hybrid zone than in the anthropogenic zone. Further, the data suggested that the São Francisco River is an important geographic barrier to gene flow in the natural hybrid zone. On the other hand, admixture patterns within the anthropogenic hybrid zone suggested collapse of reproductive barriers, and the formation of a hybrid marmoset swarm. Thus, this work suggested different evolutionary dynamics in anthropogenic vs. natural animal hybrid zones. Restriction Associated DNA sequencing (RADseq) identified a large number of single nucleotide polymorphisms within C. jacchus and C. penicillata genomes. These preliminary data were used to measure intraspecific genomic diversity and interspecific divergence. In the future, RADseq will be used to study genus-wide diversity of Callithrix species, examine past and present marmoset demographic history, and applied to the evolutionary study of marmoset hybridization.

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Date Created
2013

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Spatial and temporal patterns of population genetic diversity in the fynbos plant, Leucadendron salignum, in the Cape Floral Region of South Africa

Description

The Cape Floral Region (CFR) in southwestern South Africa is one of the most diverse in the world, with >9,000 plant species, 70% of which are endemic, in an area of only ~90,000 km2. Many have suggested that the CFR's

The Cape Floral Region (CFR) in southwestern South Africa is one of the most diverse in the world, with >9,000 plant species, 70% of which are endemic, in an area of only ~90,000 km2. Many have suggested that the CFR's heterogeneous environment, with respect to landscape gradients, vegetation, rainfall, elevation, and soil fertility, is responsible for the origin and maintenance of this biodiversity. While studies have struggled to link species diversity with these features, no study has attempted to associate patterns of gene flow with environmental data to determine how CFR biodiversity evolves on different scales. Here, a molecular population genetic data is presented for a widespread CFR plant, Leucadendron salignum, across 51 locations with 5-kb of chloroplast (cpDNA) and 6-kb of unlinked nuclear (nuDNA) DNA sequences in a dataset of 305 individuals. In the cpDNA dataset, significant genetic structure was found to vary on temporal and spatial scales, separating Western and Eastern Capes - the latter of which appears to be recently derived from the former - with the highest diversity in the heart of the CFR in a central region. A second study applied a statistical model using vegetation and soil composition and found fine-scale genetic divergence is better explained by this landscape resistance model than a geographic distance model. Finally, a third analysis contrasted cpDNA and nuDNA datasets, and revealed very little geographic structure in the latter, suggesting that seed and pollen dispersal can have different evolutionary genetic histories of gene flow on even small CFR scales. These three studies together caution that different genomic markers need to be considered when modeling the geographic and temporal origin of CFR groups. From a greater perspective, the results here are consistent with the hypothesis that landscape heterogeneity is one driving influence in limiting gene flow across the CFR that can lead to species diversity on fine-scales. Nonetheless, while this pattern may be true of the widespread L. salignum, the extension of this approach is now warranted for other CFR species with varying ranges and dispersal mechanisms to determine how universal these patterns of landscape genetic diversity are.

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Date Created
2013

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Quantifying the Evolution of Fluconazole Resistance in S. Cerevisiae Using Molecular Barcodes

Description

One of the largest problems facing modern medicine is drug resistance. Many classes of drugs can be rendered ineffective if their target is able to acquire beneficial mutations. While this is an excellent showcase of the power of evolution, it

One of the largest problems facing modern medicine is drug resistance. Many classes of drugs can be rendered ineffective if their target is able to acquire beneficial mutations. While this is an excellent showcase of the power of evolution, it necessitates the development of increasingly stronger drugs to combat resistant pathogens. Not only is this strategy costly and time consuming, it is also unsustainable. To contend with this problem, many multi-drug treatment strategies are being explored. Previous studies have shown that resistance to some drug combinations is not possible, for example, resistance to a common antifungal drug, fluconazole, seems impossible in the presence of radicicol. We believe that in order to understand the viability of multi-drug strategies in combating drug resistance, we must understand the full spectrum of resistance mutations that an organism can develop, not just the most common ones. It is possible that rare mutations exist that are resistant to both drugs. Knowing the frequency of such mutations is important for making predictions about how problematic they will be when multi-drug strategies are used to treat human disease. This experiment aims to expand on previous research on the evolution of drug resistance in S. cerevisiae by using molecular barcodes to track ~100,000 evolving lineages simultaneously. The barcoded cells were evolved with serial transfers for seven weeks (200 generations) in three concentrations of the antifungal Fluconazole, three concentrations of the Hsp90 inhibitor Radicicol, and in four combinations of Fluconazole and Radicicol. Sequencing data was used to track barcode frequencies over the course of the evolution, allowing us to observe resistant lineages as they rise and quantify differences in resistance evolution across the different conditions. We were able to successfully observe over 100,000 replicates simultaneously, revealing many adaptive lineages in all conditions. Our results also show clear differences across drug concentrations and combinations, with the highest drug concentrations exhibiting distinct behaviors.

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Date Created
2021-05

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Plasmodium population structure in the context of malaria control and elimination

Description

Malaria is a vector-borne parasitic disease affecting tropical and subtropical regions. Regardless control efforts, malaria incidence is still incredible high with 219 million clinical cases and an estimated 660,000 related deaths (WHO, 2012). In this project, different population genetic approaches

Malaria is a vector-borne parasitic disease affecting tropical and subtropical regions. Regardless control efforts, malaria incidence is still incredible high with 219 million clinical cases and an estimated 660,000 related deaths (WHO, 2012). In this project, different population genetic approaches were explored to characterize parasite populations. The goal was to create a framework that considered temporal and spatial changes of Plasmodium populations in malaria surveillance. This is critical in a vector borne disease in areas of low transmission where there is not accurate information of when and where a patient was infected. In this study, fragment analysis data and single nucleotide polymorphism (SNPs) from South American samples were used to characterize Plasmodium population structure, patterns of migration and gene flow, and discuss approaches to differentiate reinfection vs. recrudescence cases in clinical trials. A Bayesian approach was also applied to analyze the Plasmodium population history by inferring genealogies using microsatellites data. Specifically, fluctuations in the parasite population and the age of different parasite lineages were evaluated through time in order to relate them with the malaria control plan in force. These studies are important to understand the turnover or persistence of "clones" circulating in a specific area through time and consider them in drug efficacy studies. Moreover, this methodology is useful for assessing changes in malaria transmission and for more efficiently manage resources to deploy control measures in locations that act as parasite "sources" for other regions. Overall, these results stress the importance of monitoring malaria demographic changes when assessing the success of elimination programs in areas of low transmission.

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Date Created
2014

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Analysis of Genetic Diversity and Clarification of Species Boundaries in Echinomastus erectocentrus var. acunensis and Close Relatives

Description

Echinomastus erectocentrus (J.M. Coulter) Britton & Rose var. acunensis (W.T. Marshall) Bravo, the Acuña cactus, is a small, single-stemmed spherical cactus with a restricted distribution across the Sonoran Desert in southern Arizona and into northern Sonora, Mexico. Populations of E.

Echinomastus erectocentrus (J.M. Coulter) Britton & Rose var. acunensis (W.T. Marshall) Bravo, the Acuña cactus, is a small, single-stemmed spherical cactus with a restricted distribution across the Sonoran Desert in southern Arizona and into northern Sonora, Mexico. Populations of E. erectocentrus var. acunensis are threatened by loss of habitat, climate change, predation, and border related impacts. Due to the severity of these threats and shrinking population sizes, E. erectocentrus var. acunensis was federally listed as endangered by the United States Fish and Wildlife Service in 2013. The varieties of Echinomastus erectocentrus, E. erectocentrus var. acunensis and E. erectocentrus var. erectocentrus (J.M. Coulter) Britton & Rose, share many morphological characteristics that make them difficult to distinguish from one another. Echinomastus johnsonii (Parry ex Engelm.) E.M. Baxter, a presumed closely related species, also has a high level of morphological overlap that further complicates our understanding of species boundaries and detailed morphological data for these three taxa indicate a geographical cline. The goal of this project is to document the genetic diversity within and among populations of E. erectocentrus var. acunensis, and its close relatives E. erectocentrus var. erectocentrus and E. johnsonii. To accomplish this, populations of E. erectocentrus var. acunensis, E. erectocentrus var. erectocentrus, E. johnsonii and the outgroup Echinomastus intertextus (Engelm.) Britton & Rose were sampled. Deoxyribonucleic acid (DNA) was extracted, and data were collected for nine microsatellite regions developed specifically for these taxa, and two microsatellite regions developed for Sclerocactus, a closely related genus. Standard population genetic measures were used to determine genetic variation and structure, and this observed genetic differentiation was then compared to the current morphological understanding of the group. These analyses help improve the knowledge of the genetic structure of E. erectocentrus var. acunensis and inform the understanding of species boundaries and evolutionary relationships within the group by revealing genetic distinctiveness between all four taxa and hybrid populations between the two varieties. This information also reveals patterns of gene flow and population locations that have the highest conservation priority, which can be incorporated into efforts to conserve and protect this endangered species.

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Agent

Created

Date Created
2020

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Population structure and Frankish ethnogenesis (AD 400-900)

Description

The transition from Late Antiquity to Early Medieval Europe (ca. AD 400-900) is often characterized as a period of ethnogenesis for a number of peoples, such as the Franks. Arising during protracted contact with the Roman Empire, the Franks would

The transition from Late Antiquity to Early Medieval Europe (ca. AD 400-900) is often characterized as a period of ethnogenesis for a number of peoples, such as the Franks. Arising during protracted contact with the Roman Empire, the Franks would eventually form an enduring kingdom in Western Europe. However, there is little consensus about the processes by which they formed an ethnic group. This study takes a fresh look at the question of Frankish ethnogenesis by employing a number of theoretical and methodological subdisciplines, including population genetics and ethnogenetic theory. The goals of this work were 1) to validate the continued use of biological data in questions of historical and archaeological significance; and 2) to elucidate how Frankish population structure changed over time.

Toward this end, measurements from the human dentition and crania were subjected to rigorous analytical techniques and interpreted within a theoretical framework of ethnogenetic life cycles. Results validate existing interpretations of intra-regional biological continuity over time. However, they also reveal that 1) there are clear biological and geographical differences between communities, and 2) there are hints of diachronic shifts, whereby some communities became more similar to each other over time. These conclusions complement current ethnohistoric work arguing for the increasing struggle of the Frankish kingdom to unify itself when confronted by strong regionally-based politics.

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Agent

Created

Date Created
2015